Severe Eyelid Malformation With Facial Clefting and Amniotic Bands.

Ophthalmic Plast Reconstr Surg

Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, U.S.A.

Published: July 2023

AI Article Synopsis

  • * The case presented discusses an infant with significant 4-eyelid defects, linked to a rare SMOC1 mutation, marking a novel connection that hasn't been previously recognized.
  • * The reconstructive techniques used aimed to improve the patient’s eye appearance and surface, achieving better eye contact, despite concerns about the child's visual potential being limited.

Article Abstract

Amniotic bands can lead to eyelid colobomas contiguous with facial clefts, resulting in severe and highly variable eyelid malformations. There is no known underlying genetic cause of amniotic band sequence. Here, the authors review the case of an infant born with large, 4-eyelid colobomatous defects in the setting of facial clefts, amniotic bands and an underlying SMOC1 mutation, which has not previously been linked to amniotic band sequence or eyelid colobomas. Reconstructive technique and the postoperative course are described, and underlying etiologic theories of amniotic band sequence are reviewed and expanded upon. Although amblyopia prevention in this patient with poor visual potential was not a consideration, the goals of improving the patient's ocular surface and maintaining eye contact were achieved.

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Source
http://dx.doi.org/10.1097/IOP.0000000000002374DOI Listing

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